Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report

BACKGROUND: Pheochromocytoma/paraganglioma (PPGL) is a rare neuroendocrine tumor. Succinate dehydrogenase (SDH) deficiency has been confirmed to be associated with PPGL in various studies. SDHB mutations play an important role in PPGL. However, genetic screening of PPGL patients has not been widely...

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Detalles Bibliográficos
Autores principales: Chen, Heye, Yao, Wei, He, Qing, Yu, Xuefang, Bian, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254674/
https://www.ncbi.nlm.nih.gov/pubmed/32460727
http://dx.doi.org/10.1186/s12881-020-01049-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254674/
https://www.ncbi.nlm.nih.gov/pubmed/32460727
http://dx.doi.org/10.1186/s12881-020-01049-3

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